| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Microphthalmia, syndromic 2 | BCOR | disease | C1846265 | GeneticVariation | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 2 | BCOR | disease | C1846265 | AlteredExpression | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 2 | BCOR | disease | C1846265 | CausalMutation | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 2 | BCOR | disease | C1846265 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 2 | BCOR | disease | C1846265 | Biomarker | 0.8 | orphanet , disgenet |
| Microphthalmia, syndromic 2 | NHS | disease | C1846265 | GeneticVariation | 0.01 | disgenet |
| Microphthalmia, syndromic 2 | LAMB3 | disease | C1846265 | GeneticVariation | 0.01 | disgenet |
| Microphthalmia, syndromic 2 | OTC | disease | C1846265 | Biomarker | 0.01 | disgenet |
| Microphthalmia, syndromic 2 | GLI1 | disease | C1846265 | AlteredExpression | 0.01 | disgenet |
| Microphthalmia, syndromic 2 | NFIC | disease | C1846265 | AlteredExpression | 0.01 | disgenet |
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